GYG2 Chromosome X
Glycogenin 2
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What This Gene Does
This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Glycosyltransferase family 8
Locus Type
gene with protein product
Location
Xp22.33
Ensembl
ENSG00000056998
Associated Conditions (1)
GYG2-related disorder
Key Variants
RS111544757
Conflicting classifications of pathogenicity
Health Risk
RS143109649
Conflicting classifications of pathogenicity
GYG2-related disorder, GYG2-related disorder
Health Risk
RS144947653
Conflicting classifications of pathogenicity
Health Risk
RS145000912
Conflicting classifications of pathogenicity
Health Risk
RS145525914
Conflicting classifications of pathogenicity
Health Risk
RS146066080
Conflicting classifications of pathogenicity
Health Risk
RS148296798
Conflicting classifications of pathogenicity
Health Risk
RS760717128
Conflicting classifications of pathogenicity
Health Risk
RS767864277
Conflicting classifications of pathogenicity
Health Risk
RS769501754
Conflicting classifications of pathogenicity
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111544757 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143109649 | Health Risk | Conflicting classifications of pathogenicity | GYG2-related disorder, GYG2-related disorder |
| RS144947653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145000912 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145525914 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146066080 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148296798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760717128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767864277 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769501754 | Health Risk | Conflicting classifications of pathogenicity | — |